Canonical Allele Identifier: CA343256503

Gene: PEX19

Linked Data

• ClinVar Variation Id: 2047787
• ClinVar RCV Id: RCV002918305
• MyVariant Identifiers: chr1:g.160249623C>T (hg19) ; chr1:g.160279833C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160279833C>T , CM000663.2:g.160279833C>T	GRCh38
NC_000001.10:g.160249623C>T , CM000663.1:g.160249623C>T	GRCh37
NC_000001.9:g.158516247C>T	NCBI36
NG_008637.1:g.10319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.784G>A MANE Select	ENSP00000357051.5:p.Gly262Ser
ENST00000556710.6:c.*465G>A	ENSP00000451235.2:n.*465G>A
ENST00000647676.1:c.82G>A	ENSP00000497162.1:p.Gly28Ser
ENST00000368072.9:c.784G>A	ENSP00000357051.5:p.Gly262Ser
ENST00000462644.5:c.*137G>A	ENSP00000435896.1:n.*137G>A
ENST00000467711.5:n.26G>A
ENST00000472750.5:c.*551G>A	ENSP00000434633.1:n.*551G>A
ENST00000485079.1:c.394G>A	ENSP00000450870.1:p.Gly132Ser
ENST00000495624.1:c.296G>A
ENST00000532508.5:n.866G>A
ENST00000532643.5:c.*137G>A	ENSP00000435915.1:n.*137G>A
ENST00000556710.5:c.343G>A	ENSP00000451235.1:p.Gly115Ser
NM_001193644.1:c.784G>A	NP_001180573.1:p.Gly262Ser
NM_002857.3:c.784G>A	NP_002848.1:p.Gly262Ser
NR_036492.1:n.701G>A
NR_036493.1:n.725G>A
NM_002857.4:c.784G>A MANE Select	NP_002848.1:p.Gly262Ser
NR_036492.2:n.683G>A
NR_036493.2:n.707G>A